Term Name: | Woodhouse-Sakati syndrome |
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Synonyms: | diabetes-hypogonadism-deafness-intellectual disability syndrome, diabetes-hypogonadism-hearing loss-intellectual disability syndrome, hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia |
Definition: | A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. |
Ontology: | Human Disease [DOID:0112264] ( DOID:0112264 ) |